Publications

A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels.

Dornbos P, Koesterer R, Ruttenburg A, et al. A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels. Nat Genet. 2022. doi:10.1038/s41588-022-01200-1.DOI Google Scholar PubMed

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.

Weiner DJ, Ling E, Erdin S, et al. Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Nat Genet. 2022. doi:10.1038/s41588-022-01203-y.DOI Google Scholar PubMed

Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials.

Mortberg MA, Vallabh SM, Minikel EV. Disease stages and therapeutic hypotheses in two decades of neurodegenerative disease clinical trials. Sci Rep. 2022;12(1):17708. doi:10.1038/s41598-022-21820-1.DOI Google Scholar PubMed

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.

Mohajeri K, Yadav R, D'haene E, et al. Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. Am J Hum Genet. 2022. doi:10.1016/j.ajhg.2022.09.015.DOI Google Scholar PubMed

A saturated map of common genetic variants associated with human height.

Yengo L, Vedantam S, Marouli E, et al. A saturated map of common genetic variants associated with human height. Nature. 2022. doi:10.1038/s41586-022-05275-y.DOI Google Scholar PubMed

Structure of the OMEGA nickase IsrB in complex with ωRNA and target DNA.

Hirano S, Kappel K, Altae-Tran H, et al. Structure of the OMEGA nickase IsrB in complex with ωRNA and target DNA. Nature. 2022. doi:10.1038/s41586-022-05324-6.DOI Google Scholar PubMed

The diverse genetic origins of a Classical period Greek army.

Reitsema LJ, Mittnik A, Kyle B, et al. The diverse genetic origins of a Classical period Greek army. Proc Natl Acad Sci U S A. 2022;119(41):e2205272119. doi:10.1073/pnas.2205272119.DOI Google Scholar PubMed

Spatial maps of T cell receptors and transcriptomes reveal distinct immune niches and interactions in the adaptive immune response.

Liu S, Iorgulescu B, Li S, et al. Spatial maps of T cell receptors and transcriptomes reveal distinct immune niches and interactions in the adaptive immune response. Immunity. 2022;55(10):1940-1952.e5. doi:10.1016/j.immuni.2022.09.002.DOI Google Scholar PubMed

Single-cell dissection of the obesity-exercise axis in adipose-muscle tissues implies a critical role for mesenchymal stem cells.

Yang J, Vamvini M, Nigro P, et al. Single-cell dissection of the obesity-exercise axis in adipose-muscle tissues implies a critical role for mesenchymal stem cells. Cell Metab. 2022;34(10):1578-1593.e6. doi:10.1016/j.cmet.2022.09.004.DOI Google Scholar PubMed

Multiscale profiling of protease activity in cancer.

Amini AP, Kirkpatrick JD, Wang CS, et al. Multiscale profiling of protease activity in cancer. Nat Commun. 2022;13(1):5745. doi:10.1038/s41467-022-32988-5.DOI Google Scholar PubMed